about
Epigenetics of early child developmentCognition and Behaviour in Sotos Syndrome: A Systematic ReviewGigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.Genetic syndromes associated with overgrowth in childhood.The role of genetics in the establishment and maintenance of the epigenome.Natural antisense transcripts as therapeutic targetsSotos syndrome and scoliosis surgical treatment: a 10-year follow-up.Generation of the Sotos syndrome deletion in mice.Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice.Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.Commonest overgrowth syndromes.Genetic syndromes caused by mutations in epigenetic genes.Approach to the Diagnosis of Overgrowth Syndromes.DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.Isolated left ventricular noncompaction in a case of sotos syndrome: a casual or causal link?NSD1 mutations generate a genome-wide DNA methylation signature.A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.Regional anesthesia in a child with sotos syndrome.The cognitive profile of Sotos syndrome.Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor.Pneumothorax from subpleural blebs-a new association of sotos syndrome?Epilepsy and early-onset overgrowth syndrome revealing Sotos syndrome.Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like featuresExpanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" Missense Mutation and Complex Skin Hamartoma
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Sotos syndrome.
@ast
Sotos syndrome.
@en
Sotos syndrome.
@nl
type
label
Sotos syndrome.
@ast
Sotos syndrome.
@en
Sotos syndrome.
@nl
prefLabel
Sotos syndrome.
@ast
Sotos syndrome.
@en
Sotos syndrome.
@nl
P2860
P356
P1476
Sotos syndrome.
@en
P2093
Katrina Tatton-Brown
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201686
P577
2006-09-13T00:00:00Z